Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders
AS Lindy, MB Stosser, E Butler… - …, 2018 - Wiley Online Library
Objective We evaluated> 8500 consecutive, unselected patients with epilepsy and
neurodevelopmental disorders who underwent multigene panel testing to determine the …
neurodevelopmental disorders who underwent multigene panel testing to determine the …
Current practice in diagnostic genetic testing of the epilepsies
Epilepsy genetics is a rapidly developing field, in which novel disease‐associated genes,
novel mechanisms associated with epilepsy, and precision medicine approaches are …
novel mechanisms associated with epilepsy, and precision medicine approaches are …
Recent advances in the molecular genetics of epilepsy
MS Hildebrand, HHM Dahl, JA Damiano… - Journal of medical …, 2013 - jmg.bmj.com
Recent advances in molecular genetics have translated into the increasing utilisation of
genetic testing in the routine clinical practice of neurologists. There has been a steady …
genetic testing in the routine clinical practice of neurologists. There has been a steady …
Diagnostic yield from 339 epilepsy patients screened on a clinical gene panel
KM Butler, C da Silva, JJ Alexander, M Hegde… - Pediatric …, 2017 - Elsevier
Background The contribution of genetic factors to epilepsy has long been recognized and
has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic …
has been estimated to play a role in 70% to 80% of cases. Identification of a pathogenic …
[HTML][HTML] Epilepsy-associated genes
J Wang, ZJ Lin, L Liu, HQ Xu, YW Shi, YH Yi, N He… - Seizure, 2017 - Elsevier
Abstract Development in genetic technology has led to the identification of an increasing
number of genes associated with epilepsy. These discoveries will both provide the basis for …
number of genes associated with epilepsy. These discoveries will both provide the basis for …
Genetic testing for the epilepsies: a systematic review
BR Sheidley, J Malinowski, AL Bergner, L Bier… - …, 2022 - Wiley Online Library
Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …
the past decade without clear guidelines regarding optimal testing strategies. We performed …
Multigene panel testing in a large cohort of adults with epilepsy: diagnostic yield and clinically actionable genetic findings
D McKnight, SL Bristow, RM Truty, A Morales… - Neurology …, 2021 - AAN Enterprises
Background and Objectives Although genetic testing among children with epilepsy has
demonstrated clinical utility and become a part of routine testing, studies in adults are …
demonstrated clinical utility and become a part of routine testing, studies in adults are …
Clinical utility of multigene panel testing in adults with epilepsy and intellectual disability
F Borlot, BI de Almeida, SL Combe, DM Andrade… - …, 2019 - Wiley Online Library
Objective To determine the diagnostic yield of a commercial epilepsy gene panel in adults
with chronic epilepsy and accompanying intellectual disability, given that genetic evaluation …
with chronic epilepsy and accompanying intellectual disability, given that genetic evaluation …
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with …
R Truty, N Patil, R Sankar, J Sullivan… - Epilepsia …, 2019 - Wiley Online Library
Objective Molecular genetic etiologies in epilepsy have become better understood in recent
years, creating important opportunities for precision medicine. Building on these advances …
years, creating important opportunities for precision medicine. Building on these advances …
[HTML][HTML] Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
L Ortega-Moreno, BG Giráldez, V Soto-Insuga… - PLoS one, 2017 - journals.plos.org
Pediatric epilepsies are a group of disorders with a broad phenotypic spectrum that are
associated with great genetic heterogeneity, thus making sequential single-gene testing an …
associated with great genetic heterogeneity, thus making sequential single-gene testing an …